Canonical Allele Identifier: CA1242195915
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526156_31526161del , CM000664.2:g.31526156_31526161del GRCh38
NC_000002.11:g.31751226_31751231del , CM000664.1:g.31751226_31751231del GRCh37
NC_000002.10:g.31604730_31604735del NCBI36
NG_008365.1:g.59814_59819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.*38_*43del MANE Select ENSP00000477587.1:n.*38_*43del
ENST00000622030.1:c.*38_*43del ENSP00000477587.1:n.*38_*43del
NM_000348.3:c.*38_*43del NP_000339.2:n.*38_*43del
XM_011533069.1:c.*38_*43del XP_011531371.1:n.*38_*43del
XM_011533070.1:c.*38_*43del XP_011531372.1:n.*38_*43del
XM_011533071.1:c.*38_*43del XP_011531373.1:n.*38_*43del
XM_011533072.1:c.*38_*43del XP_011531374.1:n.*38_*43del
XM_011533069.2:c.*38_*43del XP_011531371.1:n.*38_*43del
XM_011533072.2:c.*38_*43del XP_011531374.1:n.*38_*43del
NM_000348.4:c.*38_*43del MANE Select NP_000339.2:n.*38_*43del